Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. 28373276

2017
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Three families with mild PMM2-CDG and normal cognitive development. 28425223

2017
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. 28373276

2017
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Three families with mild PMM2-CDG and normal cognitive development. 28425223

2017
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. 26805780

2016
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. 26805780

2016
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein. 26014514

2015
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2. 26488408

2015
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2. 26488408

2015
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein. 26014514

2015
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation. 24498599

2013
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation. 24498599

2013
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR A new insight into PMM2 mutations in the French population. 15844218

2005
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR A new insight into PMM2 mutations in the French population. 15844218

2005
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling. 11343337

2001
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling. 11343337

2001
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). 10854097

2000
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). 10854097

2000
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). 10527672

1999
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli. 10602363

1999
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). 10527672

1999
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli. 10602363

1999
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). 9140401

1997
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). 9140401

1997